Matthew J. Lynch

65 Kavanagh Street
Southbank, VIC 3006, Australia

Last Updated: 09/26/2026

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Found 37 publications

NAXD Deficiency: Heterogeneous Phenotypes and Positive Response to Niacin Treatment.

NAXD Deficiency: Heterogeneous Phenotypes and Positive Response to Niacin Treatment.

Journal: Journal of inherited metabolic disease
Published: March 04, 2026

COASY-Associated Disorders as a Differential Diagnosis in Cases with Newborn Screening Results Suggestive of CPT-I.

COASY-Associated Disorders as a Differential Diagnosis in Cases with Newborn Screening Results Suggestive of CPT-I.

Journal: International journal of neonatal screening
Published: January 23, 2026

KCNQ2 neonatal epilepsy: Impact of prompt diagnosis and treatment, and early predictors of outcome severity.

KCNQ2 neonatal epilepsy: Impact of prompt diagnosis and treatment, and early predictors of outcome severity.

Journal: Epilepsia open
Published: October 27, 2025

A Case Series of Sudden Death in Children Aged 12 Months to 4 Years From LPIN1 Deficiency and PPA2 Deficiency in Queensland.

A Case Series of Sudden Death in Children Aged 12 Months to 4 Years From LPIN1 Deficiency and PPA2 Deficiency in Queensland.

Journal: Journal of paediatrics and child health
Published: August 14, 2025

Antenatal and Neonatal Management of Siblings With Carbonic Anhydrase VA Deficiency.

Antenatal and Neonatal Management of Siblings With Carbonic Anhydrase VA Deficiency.

Journal: JIMD reports
Published: July 11, 2025

Holocarboxylase Synthetase Deficiency: A Second Case Report With Neonatal Cholestatic Liver Disease.

Holocarboxylase Synthetase Deficiency: A Second Case Report With Neonatal Cholestatic Liver Disease.

Journal: JIMD reports
Published: June 28, 2025

Abnormal Newborn Screening Resembling Carnitine Palmitoyltransferase 1a Deficiency in Three Patients With COASY Protein Associated Neurodegeneration.

Abnormal Newborn Screening Resembling Carnitine Palmitoyltransferase 1a Deficiency in Three Patients With COASY Protein Associated Neurodegeneration.

Journal: JIMD reports
Published: June 28, 2025

Massively Parallel Sequencing: Successes, Limitations and the Future for Inborn Errors of Metabolism.

Massively Parallel Sequencing: Successes, Limitations and the Future for Inborn Errors of Metabolism.

Journal: Journal of paediatrics and child health
Published: January 28, 2025

Phase 2a/b randomised placebo-controlled dose-escalation trial of triheptanoin for ataxia-telangiectasia: treating mitochondrial dysfunction with anaplerosis.

Phase 2a/b randomised placebo-controlled dose-escalation trial of triheptanoin for ataxia-telangiectasia: treating mitochondrial dysfunction with anaplerosis.

Journal: EBioMedicine
Published: January 17, 2025

Reduced Protein Import via TIM23 SORT Drives Disease Pathology in TIMM50-Associated Mitochondrial Disease.

Reduced Protein Import via TIM23 SORT Drives Disease Pathology in TIMM50-Associated Mitochondrial Disease.

Journal: Molecular and cellular biology
Published: June 03, 2024

Three novel missense variants in two families with JAG2-associated limb-girdle muscular dystrophy.

Three novel missense variants in two families with JAG2-associated limb-girdle muscular dystrophy.

Journal: Neuromuscular disorders : NMD
Published: May 15, 2024

Upregulation versus loss of function of NTRK2 in 44 affected individuals leads to 2 distinct neurodevelopmental disorders.

Upregulation versus loss of function of NTRK2 in 44 affected individuals leads to 2 distinct neurodevelopmental disorders.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: April 10, 2024
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Last Updated: 09/26/2026